| Disease ID | Source | Name | Description |
| 617082 | OMIM | Congenital disorder of glycosylation 1AA (CDG1AA) | A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1AA inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 617831 | OMIM | Mental retardation, autosomal dominant 55, with seizures (MRD55) | A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD55 patients suffer from seizures appearing during the first years of life. The disease is caused by variants affecting the gene represented in this entry. |